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Response to: SOD1 mutations in adult‐onset distal spinal muscular atrophy.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 11, p. e74, doi. 10.1111/ene.14425
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- Publication type:
- Article
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 7, p. 1304, doi. 10.1111/ene.14246
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- Publication type:
- Article
Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy.
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 5, p. 441, doi. 10.1111/nan.12410
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- Publication type:
- Article
Association study reveals novel risk loci for sporadic inclusion body myositis.
- Published in:
- European Journal of Neurology, 2017, v. 24, n. 4, p. 572, doi. 10.1111/ene.13244
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- Publication type:
- Article
Laing early-onset distal myopathy in a Belgian family.
- Published in:
- Acta Neurologica Belgica, 2014, v. 114, n. 4, p. 253, doi. 10.1007/s13760-014-0298-7
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- Publication type:
- Article
'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1 D.
- Published in:
- European Journal of Neurology, 2013, v. 20, n. 12, p. 1553, doi. 10.1111/ene.12239
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- Publication type:
- Article
Altered expression and splicing of Ca<sup>2+</sup> metabolism genes in myotonic dystrophies DM1 and DM2.
- Published in:
- Neuropathology & Applied Neurobiology, 2013, v. 39, n. 4, p. 390, doi. 10.1111/j.1365-2990.2012.01289.x
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- Publication type:
- Article
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 491, doi. 10.1111/j.1399-0004.2011.01667.x
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- Publication type:
- Article
Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita.
- Published in:
- Acta Neurologica Scandinavica, 2011, v. 124, n. 2, p. 146, doi. 10.1111/j.1600-0404.2011.01486.x
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- Publication type:
- Article
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 11, p. 1393, doi. 10.1111/j.1468-1331.2010.03028.x
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- Publication type:
- Article
EFNS nuorodos apie intraveninio imunoglobulino skyrimą, gydant neurologines ligas.
- Published in:
- Neurologijos Seminarai, 2009, v. 13, n. 3, p. 167
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- Publication type:
- Article
Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 1, p. 27, doi. 10.1111/j.1468-1331.2008.02272.x
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- Publication type:
- Article
EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases.
- Published in:
- European Journal of Neurology, 2008, v. 15, n. 9, p. 893, doi. 10.1111/j.1468-1331.2008.02246.x
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- Publication type:
- Article
Do carriers of POLG mutation W748S have disease manifestations?
- Published in:
- Clinical Genetics, 2007, v. 72, n. 6, p. 532, doi. 10.1111/j.1399-0004.2007.00908.x
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- Publication type:
- Article
Zaspopathy in a large classic late-onset distal myopathy family.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1477, doi. 10.1093/brain/awm006
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- Publication type:
- Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
- Published in:
- 2006
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- Publication type:
- journal article
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
- Published in:
- 2005
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- Publication type:
- Journal Article
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy.
- Published in:
- Acta Neurologica Scandinavica, 2004, v. 110, n. 2, p. 87, doi. 10.1111/j.1600-0404.2004.00283.x
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- Publication type:
- Article
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 631, doi. 10.1038/sj.ejhg.5200517
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- Publication type:
- Article
High prevalence of Kennedy's disease in Western Finland - is the syndrome underdiagnosed?
- Published in:
- Acta Neurologica Scandinavica, 1998, v. 98, n. 2, p. 128, doi. 10.1111/j.1600-0404.1998.tb01732.x
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- Publication type:
- Article
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation.
- Published in:
- Brain: A Journal of Neurology, 1996, v. 119, n. 4, p. 1153, doi. 10.1093/brain/119.4.1153
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- Publication type:
- Article
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.
- Published in:
- 1996
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- Publication type:
- journal article
Linkage Analyses in Tibial Muscular Dystrophy.
- Published in:
- Human Heredity, 1996, v. 46, n. 2, p. 98, doi. 10.1159/000154334
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- Publication type:
- Article
Vocal cord paralysis in the Shy-Drager syndrome.
- Published in:
- Acta Neurologica Scandinavica, 1982, v. 66, n. 4, p. 505, doi. 10.1111/j.1600-0404.1982.tb06873.x
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- Publication type:
- Article